MRXGH
MCID: MNT300
MIFTS: 26

Mental Retardation, X-Linked, with Panhypopituitarism (MRXGH)

Categories: Endocrine diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Mental Retardation, X-Linked, with Panhypopituitarism

MalaCards integrated aliases for Mental Retardation, X-Linked, with Panhypopituitarism:

Name: Mental Retardation, X-Linked, with Panhypopituitarism 57
Mental Retardation, X-Linked, with Isolated Growth Hormone Deficiency 57 72 29 13 6 39 70
Mental Retardation with Panhypopituitarism, X-Linked 29 6
Mrgh 58 72
X-Linked Intellectual Disability with Isolated Growth Hormone Deficiency 58
Mental Retardation X-Linked with Panhypopituitarism 72
Mrxgh 72

Characteristics:

Orphanet epidemiological data:

58
x-linked intellectual disability with isolated growth hormone deficiency
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

HPO:

31
mental retardation, x-linked, with panhypopituitarism:
Inheritance x-linked inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare endocrine diseases


External Ids:

OMIM® 57 300123
MeSH 44 D038901
ICD10 via Orphanet 33 E23.0
UMLS via Orphanet 71 C1848068
Orphanet 58 ORPHA67045
UMLS 70 C1848068

Summaries for Mental Retardation, X-Linked, with Panhypopituitarism

UniProtKB/Swiss-Prot : 72 Mental retardation, X-linked, with isolated growth hormone deficiency: A disorder characterized by the association of variable degrees of mental retardation with panhypopituitarism, variable combinations of hypothyroidism, delayed pubertal development, and short stature due to growth hormone deficiency.

MalaCards based summary : Mental Retardation, X-Linked, with Panhypopituitarism, is also known as mental retardation, x-linked, with isolated growth hormone deficiency. An important gene associated with Mental Retardation, X-Linked, with Panhypopituitarism is SOX3 (SRY-Box Transcription Factor 3). Affiliated tissues include pituitary and eye, and related phenotypes are intellectual disability and short stature

More information from OMIM: 300123

Related Diseases for Mental Retardation, X-Linked, with Panhypopituitarism

Symptoms & Phenotypes for Mental Retardation, X-Linked, with Panhypopituitarism

Human phenotypes related to Mental Retardation, X-Linked, with Panhypopituitarism:

58 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
3 decreased serum insulin-like growth factor 1 58 31 hallmark (90%) Very frequent (99-80%) HP:0030353
4 decreased response to growth hormone stimuation test 31 hallmark (90%) HP:0000824
5 delayed skeletal maturation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002750
6 hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002079
7 mild global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0011342
8 oculomotor apraxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000657
9 anterior pituitary hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0010627
10 ectopic posterior pituitary 58 31 occasional (7.5%) Occasional (29-5%) HP:0011755
11 abnormal myelination 58 31 occasional (7.5%) Occasional (29-5%) HP:0012447
12 abnormal saccadic eye movements 58 31 occasional (7.5%) Occasional (29-5%) HP:0000570
13 gaze-evoked horizontal nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0007979
14 small posterior fossa 58 31 occasional (7.5%) Occasional (29-5%) HP:0040010
15 hypothyroidism 31 HP:0000821
16 global developmental delay 31 HP:0001263
17 intellectual disability, mild 31 HP:0001256
18 panhypopituitarism 31 HP:0000871
19 growth hormone deficiency 58 Very frequent (99-80%)

Clinical features from OMIM®:

300123 (Updated 05-Apr-2021)

Drugs & Therapeutics for Mental Retardation, X-Linked, with Panhypopituitarism

Search Clinical Trials , NIH Clinical Center for Mental Retardation, X-Linked, with Panhypopituitarism

Genetic Tests for Mental Retardation, X-Linked, with Panhypopituitarism

Genetic tests related to Mental Retardation, X-Linked, with Panhypopituitarism:

# Genetic test Affiliating Genes
1 Mental Retardation with Panhypopituitarism, X-Linked 29 SOX3
2 Mental Retardation, X-Linked, with Isolated Growth Hormone Deficiency 29

Anatomical Context for Mental Retardation, X-Linked, with Panhypopituitarism

MalaCards organs/tissues related to Mental Retardation, X-Linked, with Panhypopituitarism:

40
Pituitary, Eye

Publications for Mental Retardation, X-Linked, with Panhypopituitarism

Articles related to Mental Retardation, X-Linked, with Panhypopituitarism:

# Title Authors PMID Year
1
Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency. 6 57
12428212 2002
2
Familial X-linked mental retardation and isolated growth hormone deficiency: clinical and molecular findings. 6 57
8826446 1996
3
Array comparative genomic hybridisation analysis of boys with X-linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3. 57
17400794 2007
4
Increased gene dosage at Xq26-q27 is associated with X-linked hypopituitarism. 57
11944988 2002
5
Identification and characterization of an Xq26-q27 duplication in a family with spina bifida and panhypopituitarism suggests the involvement of two distinct genes. 57
11031100 2000
6
X-linked mental retardation with isolated growth hormone deficiency is mapped to Xq22-Xq27.2 in one family. 57
9508246 1998
7
X-linked recessive panhypopituitarism associated with a regional duplication in Xq25-q26. 57
9106538 1997

Variations for Mental Retardation, X-Linked, with Panhypopituitarism

ClinVar genetic disease variations for Mental Retardation, X-Linked, with Panhypopituitarism:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SOX3 SOX3, 33-BP DUP, NT711-743, ALANINE TRACT EXPANSION Duplication Pathogenic 9868 GRCh37:
GRCh38:
2 SOX3 NM_005634.2(SOX3):c.449C>A (p.Ser150Tyr) SNV Likely pathogenic 444006 rs1556518231 GRCh37: X:139586777-139586777
GRCh38: X:140504612-140504612
3 SOX3 NM_005634.2(SOX3):c.735_737dup (p.Ala248dup) Duplication Uncertain significance 95305 rs398124211 GRCh37: X:139586488-139586489
GRCh38: X:140504323-140504324
4 SOX3 NM_005634.3(SOX3):c.791T>G (p.Val264Gly) SNV Uncertain significance 1030001 GRCh37: X:139586435-139586435
GRCh38: X:140504270-140504270
5 LOC108281134 , SOX3 NM_005634.3(SOX3):c.20A>G (p.Asn7Ser) SNV Uncertain significance 1034197 GRCh37: X:139587206-139587206
GRCh38: X:140505041-140505041
6 SOX3 NM_005634.3(SOX3):c.337G>A (p.Ala113Thr) SNV Uncertain significance 1034198 GRCh37: X:139586889-139586889
GRCh38: X:140504724-140504724
7 LOC108281134 , SOX3 NM_005634.2(SOX3):c.14G>C (p.Arg5Pro) SNV Likely benign 804090 rs112180170 GRCh37: X:139587212-139587212
GRCh38: X:140505047-140505047

Expression for Mental Retardation, X-Linked, with Panhypopituitarism

Search GEO for disease gene expression data for Mental Retardation, X-Linked, with Panhypopituitarism.

Pathways for Mental Retardation, X-Linked, with Panhypopituitarism

GO Terms for Mental Retardation, X-Linked, with Panhypopituitarism

Sources for Mental Retardation, X-Linked, with Panhypopituitarism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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